Lista de obras - Bradley N Smith - Dominio Público Uruguay

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

artículo científico publicado en 2014

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

artículo científico publicado en 2018

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

artículo científico publicado en 2015

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

artículo científico publicado en 2018

ATXN2 trinucleotide repeat length correlates with risk of ALS.

artículo científico publicado en 2016

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

artículo científico publicado en 2012

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

artículo científico publicado en 2017

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

artículo científico publicado en 2011

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

artículo científico publicado en 2014

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2016

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

artículo científico publicado en 2013

Association study on glutathione S-transferase omega 1 and 2 and familial ALS.

artículo científico publicado en 2008

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

artículo científico publicado en 2014

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

artículo científico publicado en 2016

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

artículo científico publicado en 2017

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

artículo científico publicado en 2020

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

artículo científico publicado en 2010

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

article

Cognitive-behaviour therapy for post-traumatic stress in schizophrenia. A randomized controlled trial.

artículo científico publicado en 2016

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Detection of long repeat expansions from PCR-free whole-genome sequence data

artículo científico publicado en 2017

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

artículo científico publicado en 2010

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

artículo científico publicado en 2006

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

artículo científico publicado en 2014

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

scientific article published on 11 October 2012

Hair analysis for drugs: technological break-through or ethical quagmire?

artículo científico publicado en 1993

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

artículo científico publicado en 2013

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

artículo científico publicado en 2009

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

artículo científico publicado en 2012

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

article

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

artículo científico publicado en 2009

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

artículo científico publicado en 2017

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

artículo científico publicado en 2014

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

artículo científico publicado en 2013

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

artículo científico publicado en 2016

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

artículo científico publicado en 2012

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

scholarly article by Soragia Athina Gkazi et al published 24 August 2018 in Neurobiology of Aging

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

artículo científico publicado en 2022

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

artículo científico publicado en 2012

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

artículo científico publicado en 2015

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

artículo científico publicado en 2015

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

artículo científico publicado en 2018

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

scientific article published on 19 November 2011

Lista de obras de Bradley N Smith

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

ATXN2 trinucleotide repeat length correlates with risk of ALS.

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Amyotrophic lateral sclerosis-like superoxide dismutase 1 proteinopathy is associated with neuronal loss in Parkinson's disease brain

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis.

Association study on glutathione S-transferase omega 1 and 2 and familial ALS.

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis

Cognitive-behaviour therapy for post-traumatic stress in schizophrenia. A randomized controlled trial.

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Detection of long repeat expansions from PCR-free whole-genome sequence data

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

Hair analysis for drugs: technological break-through or ethical quagmire?

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS